Canonical Allele Identifier: CA405424631
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732482A>C , CM000681.2:g.35732482A>C GRCh38
NC_000019.9:g.36223383A>C , CM000681.1:g.36223383A>C GRCh37
NC_000019.8:g.40915223A>C NCBI36
NG_052906.1:g.19464A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.239A>C
ENST00000673918.2:c.5867A>C ENSP00000501283.1:p.Glu1956Ala
ENST00000674114.2:c.3474A>C ENSP00000501039.2:n.3474A>C
ENST00000684977.1:c.1151A>C ENSP00000509384.1:p.Glu384Ala
ENST00000689544.1:n.1086A>C
ENST00000691421.1:c.1154A>C ENSP00000508674.1:p.Glu385Ala
ENST00000691855.1:c.5475A>C
ENST00000692961.1:c.5933A>C ENSP00000509289.1:p.Glu1978Ala
ENST00000693677.1:c.704+153A>C ENSP00000509779.1:n.704+153A>C
ENST00000420124.4:c.5933A>C MANE Select ENSP00000398837.2:p.Glu1978Ala
ENST00000673918.1:c.5867A>C ENSP00000501283.1:p.Glu1956Ala
ENST00000674114.1:c.3255A>C
ENST00000420124.2:c.5933A>C ENSP00000398837.1:p.Glu1978Ala
NM_014727.2:c.5933A>C NP_055542.1:p.Glu1978Ala
XM_011527561.1:c.5867A>C XP_011525863.1:p.Glu1956Ala
XM_011527562.1:c.5933A>C XP_011525864.1:p.Glu1978Ala
XM_011527563.1:c.5657A>C XP_011525865.1:p.Glu1886Ala
XM_011527561.2:c.5369A>C XP_011525863.2:p.Glu1790Ala
XM_011527562.2:c.5933A>C XP_011525864.1:p.Glu1978Ala
XM_017027544.1:c.5933A>C XP_016883033.1:p.Glu1978Ala
XM_017027545.1:c.5369A>C XP_016883034.1:p.Glu1790Ala
XM_017027546.1:c.2897A>C XP_016883035.1:p.Glu966Ala
NM_014727.3:c.5933A>C MANE Select NP_055542.1:p.Glu1978Ala